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NM_003002.4(SDHD):c.400T>G (p.Leu134Val) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 12, 2024
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000573265.13

Allele description [Variation Report for NM_003002.4(SDHD):c.400T>G (p.Leu134Val)]

NM_003002.4(SDHD):c.400T>G (p.Leu134Val)

Gene:
SDHD:succinate dehydrogenase complex subunit D [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q23.1
Genomic location:
Preferred name:
NM_003002.4(SDHD):c.400T>G (p.Leu134Val)
HGVS:
  • NC_000011.10:g.112094890T>G
  • NG_012337.3:g.13044T>G
  • NM_001276503.2:c.255T>G
  • NM_001276504.2:c.283T>G
  • NM_001276506.2:c.*98T>G
  • NM_003002.4:c.400T>GMANE SELECT
  • NP_001263432.1:p.Leu85=
  • NP_001263433.1:p.Leu95Val
  • NP_002993.1:p.Leu134Val
  • LRG_9t1:c.400T>G
  • LRG_9:g.13044T>G
  • LRG_9p1:p.Leu134Val
  • NC_000011.9:g.111965614T>G
  • NM_003002.2:c.400T>G
  • NM_003002.3:c.400T>G
  • NR_077060.2:n.489T>G
Protein change:
L134V
Links:
dbSNP: rs200851392
NCBI 1000 Genomes Browser:
rs200851392
Molecular consequence:
  • NM_001276506.2:c.*98T>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001276504.2:c.283T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003002.4:c.400T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_077060.2:n.489T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001276503.2:c.255T>G - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000675120Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jun 12, 2024) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV000675120.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The p.L134V variant (also known as c.400T>G), located in coding exon 4 of the SDHD gene, results from a T to G substitution at nucleotide position 400. The leucine at codon 134 is replaced by valine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 18, 2024